Article
Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease.
American journal of medical genetics - 1 Jul 1992
Ikonen E, Salo A, Somer M, Somer H, Pääkkönen L, Peltonen L
Abstract excerpt
A 15-year-old boy with a terminal deletion of the short arm of chromosome 4 is described. The patient has a mild clinical phenotype that is incompatible with Wolf-Hirschhorn syndrome. Careful neurological examination including CT scan did not show any signs of Huntington disease. The chromosomal...
Topics
- Abnormalities, Multiple
- Adolescent
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 4
- DNA Probes
- Genetic Linkage
- Humans
- Huntington Disease
- Karyotyping
- Male
- Phenotype
- Seizures
- Syndrome
- Translocation, Genetic
- Valproic Acid